Works matching IS 03406717 AND DT 2015 AND VI 134 AND IP 9

Results: 10

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.

Published in:

Human Genetics, 2015, v. 134, n. 9, p. 967, doi. 10.1007/s00439-015-1575-0

By:

Yavarna, Tarunashree;
Al-Dewik, Nader;
Al-Mureikhi, Mariam;
Ali, Rehab;
Al-Mesaifri, Fatma;
Mahmoud, Laila;
Shahbeck, Noora;
Lakhani, Shenela;
AlMulla, Mariam;
Nawaz, Zafar;
Vitazka, Patrik;
Alkuraya, Fowzan;
Ben-Omran, Tawfeg

Publication type:

Article

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.

Published in:

Human Genetics, 2015, v. 134, n. 9, p. 981, doi. 10.1007/s00439-015-1577-y

By:

Tetreault, Martine;
Fahiminiya, Somayyeh;
Antonicka, Hana;
Mitchell, Grant;
Geraghty, Michael;
Lines, Matthew;
Boycott, Kym;
Shoubridge, Eric;
Mitchell, John;
Michaud, Jacques;
Majewski, Jacek

Publication type:

Article

Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.

Published in:

Human Genetics, 2015, v. 134, n. 9, p. 951, doi. 10.1007/s00439-015-1578-x

By:

Kaliszewska, Magdalena;
Kruszewski, Jakub;
Kierdaszuk, Biruta;
Kostera-Pruszczyk, Anna;
Nojszewska, Monika;
Łusakowska, Anna;
Vizueta, Joel;
Sabat, Dorota;
Lutyk, Dorota;
Lower, Michał;
Piekutowska-Abramczuk, Dorota;
Kaniak-Golik, Aneta;
Pronicka, Ewa;
Kamińska, Anna;
Bartnik, Ewa;
Golik, Paweł;
Tońska, Katarzyna

Publication type:

Article

KIR and HLA under pressure: evidences of coevolution across worldwide populations.

Published in:

Human Genetics, 2015, v. 134, n. 9, p. 929, doi. 10.1007/s00439-015-1579-9

By:

Augusto, Danillo;
Petzl-Erler, Maria

Publication type:

Article

Revisiting disease genes based on whole-exome sequencing in consanguineous populations.

Published in:

Human Genetics, 2015, v. 134, n. 9, p. 1029, doi. 10.1007/s00439-015-1580-3

By:

Shamia, Ahmed;
Shaheen, Ranad;
Sabbagh, Nouran;
Almoisheer, Agaadir;
Halees, Anason;
Alkuraya, Fowzan

Publication type:

Article

Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events.

Published in:

Human Genetics, 2015, v. 134, n. 9, p. 993, doi. 10.1007/s00439-015-1581-2

By:

Nishida, Atsushi;
Minegishi, Maki;
Takeuchi, Atsuko;
Awano, Hiroyuki;
Niba, Emma;
Matsuo, Masafumi

Publication type:

Article

Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome.

Published in:

Human Genetics, 2015, v. 134, n. 9, p. 1003, doi. 10.1007/s00439-015-1582-1

By:

Theis, Jeanne;
Hrstka, Sybil;
Evans, Jared;
O'Byrne, Megan;
de Andrade, Mariza;
O'Leary, Patrick;
Nelson, Timothy;
Olson, Timothy

Publication type:

Article

Mosaic maternal ancestry in the Great Lakes region of East Africa.

Published in:

Human Genetics, 2015, v. 134, n. 9, p. 1013, doi. 10.1007/s00439-015-1583-0

By:

Gomes, Verónica;
Pala, Maria;
Salas, Antonio;
Álvarez-Iglesias, Vanesa;
Amorim, António;
Gómez-Carballa, Alberto;
Carracedo, Ángel;
Clarke, Douglas;
Hill, Catherine;
Mormina, Maru;
Shaw, Marie-Anne;
Dunne, David;
Pereira, Rui;
Pereira, Vânia;
Prata, Maria;
Sánchez-Diz, Paula;
Rito, Teresa;
Soares, Pedro;
Gusmão, Leonor;
Richards, Martin

Publication type:

Article

Louanne Hudgins, Helga V. Toriello, Gregory M. Enns and H. Eugene Hoyme (eds): Signs and Symptoms of Genetic Conditions, a Handbook.

Published in:

2015

By:

Tully, Ian

Publication type:

Book Review

Mutation of ATF6 causes autosomal recessive achromatopsia.

Published in:

Human Genetics, 2015, v. 134, n. 9, p. 941, doi. 10.1007/s00439-015-1571-4

By:

Ansar, Muhammad;
Santos-Cortez, Regie;
Saqib, Muhammad;
Zulfiqar, Fareeha;
Lee, Kwanghyuk;
Ashraf, Naeem;
Ullah, Ehsan;
Wang, Xin;
Sajid, Sundus;
Khan, Falak;
Amin-ud-Din, Muhammad;
Smith, Joshua;
Shendure, Jay;
Bamshad, Michael;
Nickerson, Deborah;
Hameed, Abdul;
Riazuddin, Saima;
Ahmed, Zubair;
Ahmad, Wasim;
Leal, Suzanne

Publication type:

Article